scholarly journals Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

2010 ◽  
Vol 87 (2) ◽  
pp. 219-228 ◽  
Author(s):  
Stephen R. Williams ◽  
Micheala A. Aldred ◽  
Vazken M. Der Kaloustian ◽  
Fahed Halal ◽  
Gordon Gowans ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Behavioral Problems ◽  
Developmental Delays

scholarly journals Neurodevelopmental Outcome of Patients With Agenesis of Corpus Callosum

2021 ◽  
Vol 7 (2) ◽  
pp. 97-101
Author(s):  
Jafar Nasiri ◽  
◽  
Maryam Sedghi ◽  
Mohammad Hossein Hemat ◽  
◽  
...  
Keyword(s):  
Mental Retardation ◽  
Corpus Callosum ◽  
Behavioral Problems ◽  
Developmental Delays ◽  
Muscle Tone ◽  
Heart Diseases ◽  
Neurodevelopmental Outcome ◽  
Clinical Manifestations ◽  
Neurodevelopmental Outcomes ◽  
Agenesis Of Corpus Callosum

Background: Agenesis of Corpus Callosum (ACC) is a type of brain dysgenesis with various clinical manifestations. Objectives: This study aimed to investigate the clinical and neurodevelopmental outcomes of patients with ACC. Materials & Methods: In this cross-sectional study, the clinical and neurodevelopmental conditions of 62 patients with complete ACC referred to subspecialty clinics of pediatric neurology, Isfahan University of Medical Sciences, Isfahan, Iran, were investigated. Quantitative data were shown as Mean±SD, and qualitative data as frequency or percentage. In addition, the f Chi-square test was used to compare some data in SPSS version 22. Results: In this study, 62 patients, including 29 boys and 33 girls with a Mean±SD age of 4.99±5.07 years, were included. Among the patients examined, 54.4% were born of consanguineous marriage, 82% had developmental delays, 80.4% had mental retardation, 89.1% had a speech delay, 23.7% had nutritional problems, 42.4% had facial dysmorphic features, and 27.6% had abnormalities of muscle tone. Among the associated problems stated by the patients, 15.5% of them had heart diseases, 22.4% visual disorders, 5.2% hearing deficit, 25.8% behavioral problems, 50% seizures, and 53.3% had abnormal electroencephalogram. Interestingly, 12.9% of the patients had normal or near-normal development. Conclusion: The prevalence of developmental delays, speech and language disorders, mental retardation, facial deformities, seizures, and abnormal muscle tone were common in the patients with ACC.

Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13)

2001 ◽  
Vol 99 (4) ◽  
pp. 314-319 ◽  
Author(s):  
Bert B.A. de Vries ◽  
Melissa Lees ◽  
Samantha J.L. Knight ◽  
Regina Regan ◽  
Deborah Corney ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Behavioral Problems ◽  
Mild Mental Retardation

Focal areas of a high rate of fragile X in Indonesia: a long term follow up

2019 ◽  
Vol 5 (2) ◽  
pp. 67-68
Author(s):  
Sultana MH Faradz ◽  
Tri Indah Winarni
Keyword(s):  
Mental Retardation ◽  
Behavioral Problems ◽  
Fragile X ◽  
Autism Spectrum ◽  
High Rate ◽  
Learning Ability ◽  
Fragile X Mental Retardation ◽  
Cgg Repeats ◽  
Long Term Follow Up

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) and a leading cause of autism spectrum disorder (ASD). FXS is caused by an expansion of CGG repeats >200 in the 5′ untranslated region of the promotor region fragile X mental retardation 1 gene (FMR1), which is located on Xq27.3.  The abnormal CGG expansion leads to methylation and transcriptional silencing of the FMR1 gene, resulting in a reduction or loss of fragile X mental retardation 1 protein (FMRP) and causes long, thin, and immature dendritic spines, which lead to deficits in cognitive function, behavioral problems, and learning ability

scholarly journals New Targeted Treatments for Fragile X Syndrome

2019 ◽  
Vol 15 (4) ◽  
pp. 251-258 ◽  
Author(s):  
Dragana Protic ◽  
Maria J. Salcedo-Arellano ◽  
Jeanne Barbara Dy ◽  
Laura A. Potter ◽  
Randi J. Hagerman
Keyword(s):  
Mental Retardation ◽  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Behavioral Problems ◽  
Rna Binding ◽  
Fragile X ◽  
Symptomatic Treatment ◽  
Fmr1 Gene ◽  
Fragile X Mental Retardation ◽  
Cgg Repeats

Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability with prevalence rates estimated to be 1:5,000 in males and 1:8,000 in females. The increase of >200 Cytosine Guanine Guanine (CGG) repeats in the 5’ untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene results in transcriptional silencing on the FMR1 gene with a subsequent reduction or absence of fragile X mental retardation protein (FMRP), an RNA binding protein involved in the maturation and elimination of synapses. In addition to intellectual disability, common features of FXS are behavioral problems, autism, language deficits and atypical physical features. There are still no currently approved curative therapies for FXS, and clinical management continues to focus on symptomatic treatment of comorbid behaviors and psychiatric problems. Here we discuss several treatments that target the neurobiological pathway abnormal in FXS. These medications are clinically available at present and the data suggest that these medications can be helpful for those with FXS.

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

2010 ◽  
Vol 3 (3) ◽  
pp. 137-141 ◽  
Author(s):  
Kim L. McBride ◽  
Elizabeth A. Varga ◽  
Matthew T. Pastore ◽  
Thomas W. Prior ◽  
Kandamurugu Manickam ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Developmental Delays

Neurologic Aspects of the Smith-Magenis Syndrome

2010 ◽  
Author(s):  
Andrea L. Gropman ◽  
Ann C. M. Smith
Keyword(s):  
Mental Retardation ◽  
Behavioral Problems ◽  
Expressive Language ◽  
Fine Motor ◽  
Older Children ◽  
Fine Motor Skill ◽  
History Of ◽  
Molecular Cytogenetic Techniques ◽  
Integration Problems ◽  
First Year Of Life

The Smith-Magenis syndrome (SMS) is a multiple congenital anomaly and mental retardation syndrome (Greenberg et al. 1996). The clinical phenotype includes distinctive craniofacial and skeletal features that change with age, a history of infantile hypotonia, significant expressive language delay, mental retardation, stereotypies, behavioral problems, and a sleep disorder (Potocki et al., 2000; De Leersynder et al. 2001). Two genetic mechanisms can cause SMS: an interstitial deletion involving chromosome 17p11.2 (including the retinoic acid–induced 1 [RAI1] gene) or a mutation in the RAI1 gene (Smith et al. 1986; Seranski et al. 2001; Slager et al. 2003). First described by Smith and colleagues in 1982, in two severely impaired patients (Smith et al. 1982), the phenotypic spectrum has been expanded by the recognition of additional cases (Smith et al. 1986; Stratton et al., 1986). The estimated prevalence of SMS deletion cases was reported to be 1 in 25,000 (Greenberg et al. 1991). However, new cases identified in the last decade as a result of improved molecular cytogenetic techniques (including microarray technology) now suggest the incidence to be closer to 1 in 15,000 births (Elsea and Girirajian 2008). Despite this improvement in technology accounting for new cases identified in the last several years, clinical diagnosis based on phenotypic recognition is often delayed. The phenotype of SMS becomes more pronounced and recognizable with advancing age both in terms of the physical and dysmorphic characteristics, as well as in the behavioral features (Gropman et al. 2006). Infants with SMS present with hypotonia, weak hoarse cry, decreased vocalization, and complacency (Gropman et al. 1998; 2006; Martin et al. 2006; Wolters et al.,2009). Gross and fine motor skill development is delayed in the first year of life. Sensory integration problems are frequently noted. Social skills are often age appropriate, delaying diagnosis in some cases. In older children, developmental delay, in particular expressive language delays, as well as emerging behavioral difficulties (Gropman et al. 2006; Martin et al. 2006; Madduri et al. 2006) and sleep disturbance may bring patients to clinical attention.

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